Associated Papers
DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.
Elsharkawi I et al.
Journal of Inherited Metabolic Disease, 2023
Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.
Bravo-Pérez C et al.
Jci Insight, 2022
36214221 (PubMed )
Supplement: jciinsight-7-161430-s136.pdf
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